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Consequences of a mutation on RAG proteins

Looks at consequences of a mutation in RAG proteins  
Thomas Lemon
over 7 years ago
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Cystic Fibrosis (CF)

This is the most common life-limiting inherited disease in Caucasians. It is caused by a genetic mutation that alters mucus production, resulting in a more viscous solution. It is autosomal recessive.   Life expectancy is improving. Newborns with CF have a life-expectancy of about 40 years. The condition is inherited in an autosomal recessive pattern.   Epidemiology Most common in Caucasians, rare in other races.    
almostadoctor.com - free medical student revision notes
over 6 years ago
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Chromosomal Abnormalities

Chromosomal Abnormalities Chromosomal abnormalities are a very common cause of spontaneous miscarriage. Most commonly a child with a chromosomal abnormality will not survive to birth. However, there are many cases where the child will survive, although often they have severe disability in life. The normal rate of miscarriage in the general population is 15%. Miscarriage does not become statistically significant unless one particular woman has >3 instances.  
almostadoctor.com - free medical student revision notes
over 6 years ago
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Genetics of Sickle Cell Disease

Sickle cell disease is an inherited genetic disorder and is a recessive trait. This video describes how the genetic mutation causing sickle cell disease is p...  
YouTube
about 6 years ago
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52

Leukemia pathophysiology

Sometimes an immature blast cell have two gene mutations which prevent it from maturing into a specialized blood cell and cause it to multiply out of control...  
YouTube
about 6 years ago
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72

HIV: Mechanisms of NNRTI Resistance

This animation describes how mutations acquired by the HIV reverse transcriptase enzyme can effectively prevent NNRTI medicines from being able to bind to it...  
YouTube
about 6 years ago
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Cell Division, Cancer | Learn Science at Scitable

Cancer is somewhat like an evolutionary process. Over time, cancer cells accumulate multiple mutations in genes that control cell division. Learn how dangerous this accumulation can be.  
nature.com
over 5 years ago
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5

Will my peripheral neuropathy get worse? -

With peripheral neuropathy, there is not a medical solution for a cure with inherited impaired function and nerve damage through inborn or a genetic mutation to the genetic code. Therapies can help with the identified 100 classifications of peripheral neuropathy. The nerve that is affected conveys the amount of systemic and decreased function a patient will display. Motor, autonomic, or sensory nerve damage carries different types of characteristics and the severity of symptoms experienced by the patient.  
calmareaz.com
almost 5 years ago
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What is The Calmare Pain Therapy treatment? -

Chronic pain is at an epidemic level in the United States. Many types of chronic pain are very difficult to diagnosis and treat, as it can be a genetic code mutation (hereditary), the result of another underlying cause, or progressive or chronic Peripheral Neuropathy. A new neurotheraphy has been helping Peripheral Neuropathy sufferers across the globe alleviate advanced cases of pain by a non-invasive FDA cleared electrostimulation therapy: The Calmare Pain Therapy treatment.  
calmareaz.com
almost 5 years ago
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Thought Leader Round Table: Drs Laskin and Sandler, Part 1 (audio)

Lung cancer experts Janessa Laskin and Alan Sandler sit down with medical oncologist Jack West to discuss complex cases. Focus on never-smokers and EGFR mutation testing.  
Howard (Jack) West, MD
almost 10 years ago
8
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Thought Leader Round Table: Drs Laskin and Sandler, Part 1 (video)

Lung cancer experts Janessa Laskin and Alan Sandler sit down with medical oncologist Jack West to discuss complex cases. Focus on never-smokers and EGFR mutation testing.  
Howard (Jack) West, MD
almost 10 years ago
7
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VPC1 2009 | Case 4

ResearchToPractice.com/VPC109 - Case 4: A 61-year-old woman with a 1.5-cm, K-ras mutation-positive, biopsy-proven metastasis to the lung 3.5 years after resection and chemoradiation therapy for rectal cancer. Interviews conducted by Neil Love, MD. Produced by Research To Practice.  
Dr Neil Love
almost 10 years ago
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20

Explanation slides Somatic Mutations cancer

© 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk Somatic Mutations in Cancer Thi…  
Nicole Chalmers
over 6 years ago
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29

Haemophilia A

X-linked recessive condition, deficiency of factor VIII, prevalence 1 in 10,000 Range of possible mutations, 30% of cases due to sporadic mutation Low factor VIII levels predispose to bleeding – risk proportional to factor VIII level Mild disease (11-30 units/dl) risk after significant trauma/surgery Moderate disease (2-10 units) - minor trauma  
almostadoctor.com - free medical student revision notes
over 6 years ago
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Neurofibromatosis

There are two types of neurofibromatosis, both inherited in an autosomal dominant manner, although some cases arise from spontaneous mutation. It results in benign tumours of the nervous system and bony and dermatological deformities.   Type I Neurofibromatosis – NF1 – aka von Recklinghausen’s disease  
almostadoctor.com - free medical student revision notes
over 6 years ago
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Fragile X Syndrome (Martin-Bell Syndrome)

So called as there is a ‘fragile site’ on the X chromosome. This is a non-staining, weakened section of the chromosome which is susceptible to breaking. It is an example of a trinucleotide expansion mutation, but is usually inherited in an X-linked recessive pattern.  Fragile X syndrome is the second most common cause of genetic learning difficulty after Down’s Syndrome.    
almostadoctor.com - free medical student revision notes
over 6 years ago
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Mutations in Cancer

How somatic mutations can lead to cancer.  
YouTube
about 6 years ago
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40

Effects of Cancer 1

Discuss the effects of cancer, as they relate to the underlying cell physiology. In particular, we discuss how genetic mutations lead to the creation of aber...  
YouTube
about 6 years ago
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33

Genetics of Sickle Cell Disease

Sickle cell disease is an inherited genetic disorder and is a recessive trait. This video describes how the genetic mutation causing sickle cell disease is p...  
YouTube
almost 6 years ago
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1
10

Mutations in Cancer

How somatic mutations can lead to cancer.  
YouTube
almost 6 years ago